IthaID: 1388

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 125 CAA>GAA HGVS Name: HBD:c.376C>G
Hb Name: Hb A2-Zagreb Protein Info: δ 125(H3) Gln>Glu

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 11
Locus: NG_000007.3
Locus Location: 64584
Size: 1 bp
Located at: δ
Specific Location: Exon 3


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Yugoslavian
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Juricic D, Crepinko I, Efremov GD, Lam H, Webber BB, Headlee MG, Huisman TH, Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new delta chain variant in association with delta beta-thalassemia., Hemoglobin, 7(5), 443-8, 1983
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.